{"orpha":708881,"name":"Phenylalanine hydroxylase deficiency","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["PAH deficiency"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-708881/","orphanet_url":"https://www.orpha.net/en/disease/detail/708881","names":{"fr":{"name":"Déficit en phénylalanine hydroxylase","synonyms":["Déficit en PAH"]},"de":{"name":"Phenylalanin-Hydroxylase-Defizienz","synonyms":["PAH-Mangel"]},"es":{"name":"Deficiencia de fenilalanina hidroxilasa","synonyms":["Deficiencia de PAH"]},"it":{"name":"Deficit di fenilalanina idrossilasi","synonyms":["Deficit di PAH"]},"nl":{"name":"Deficiëntie van fenylalaninehydroxylase","synonyms":["PAH-deficiëntie"]},"pt":{"name":"Phenylalanine hydroxylase deficiency"},"pl":{"name":"Niedobór hydroksylazy fenyloalaniny","synonyms":["PAH deficiency"]},"cs":{"name":"Phenylalanine hydroxylase deficiency","synonyms":["PAH deficiency"]}},"xrefs":[{"source":"OMIM","code":"261600","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":284814,"name":"Disorder of phenylalanine metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[{"orpha":2209,"name":"Maternal phenylketonuria syndrome","type":"Malformation syndrome"},{"orpha":79651,"name":"Mild hyperphenylalaninemia","type":"Disease"},{"orpha":716,"name":"Phenylketonuria","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}